title: Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians.
abstract: OBJECTIVE
  To investigate the association of the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the elastin gene (ELN) with polypoidal choroidal vasculopathy (PCV) in European-American patients.
  
  
  METHODS
  Association analysis of allele and genotype frequencies, determined by TaqMan assays, was performed for the rs2301995 haplotype-tagging single nucleotide polymorphism (htSNP) in the ELN locus in fifty-six patients with PCV, 368 patients with advanced age-related macular degeneration (AMD) and 368 age- and ethnically-matched unaffected controls.
  
  
  RESULTS
  The ELN rs2301995 SNP was not statistically significantly associated with the PCV phenotype (P = 0.9). The frequency of the minor allele of the rs2301995 SNP was practically identical in the PCV, AMD and control groups (6.3% vs. 5.4% vs. 7.1%).
  
  
  CONCLUSIONS
  The PCV phenotype in European-American patients is not associated with rs2301995 SNP in the ELN locus.
authors.affiliation: Vitreous, Retina, Macula Consultants of New York and the LuEsther T. Mertz Retina Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, USA.
authors.forename: Luiz H
authors.initials: LH
authors.lastname: Lima
authors.forename: Joanna E
authors.initials: JE
authors.lastname: Merriam
authors.forename: K Bailey
authors.initials: KB
authors.lastname: Freund
authors.forename: Irene A
authors.initials: IA
authors.lastname: Barbazetto
authors.forename: Richard F
authors.initials: RF
authors.lastname: Spaide
authors.forename: Lawrence A
authors.initials: LA
authors.lastname: Yannuzzi
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
mesh_terms: D000368:Aged; D002829:Choroid / Q000098:blood supply*; D015862:Choroid Diseases / Q000235:genetics*; D004549:Elastin / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics; D016491:Peripheral Vascular Diseases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics*
chemical_list: D004549:Elastin